An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations
Identification of patients with melanoma who are most likely to benefit from targeted therapies
This test is not intended for serial monitoring of patients with malignant melanoma, evaluating patients with other malignancies, or as a screening test to identify cancer.
This test is not validated for serial monitoring of patients with malignant melanoma, nor should it be used for evaluating patients with other malignancies. This test is also not intended as a screening test to identify cancer.
This test evaluates peripheral blood for BRAF alterations in cell-free DNA.
Detection of BRAF alterations in melanoma patients can be used as an alternative for BRAF analysis of tissue.
Current data suggests that the efficacy of BRAF-targeted therapy and anti-MEK therapy in melanoma is limited to patients whose tumors harbor a V600E or V600K alteration.
Digital Droplet Polymerase Chain Reaction (ddPCR)
Melanoma
Cell free DNA
cfDNA
cell-free DNA
circulating tumor DNA
liquid biopsy
BRAF
V600E
V600K
Circulating tumor cells
BRAFB
Whole blood
This test is not a prenatal screening test. To evaluate for the presence of common fetal chromosome abnormalities using cell-free DNA, see NIPS / Cell-Free DNA Prenatal Screen, Blood.
1. Samples should be transported at ambient temperature or refrigerated (4 degrees C)
2. Samples are viable for 7 days in the Streck Black/Tan Top Tube Kit (T715)
Supplies: Streck Black/Tan Top Tube Kit (T715)
Specimen Volume: Two, 10-mL Streck cell-free DNA (cfDNA) blood collection tubes
Additional Information:
1. Only blood collected in Streck cfDNA tubes will be accepted for analysis.
2. Whole blood will be processed to produce platelet-poor plasma before cfDNA isolation.
If not ordering electronically, complete, print, and send an Oncology Test Request (T729) with the specimen
One 10 mL Streck cell-free DNA tube
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole blood | Ambient (preferred) | 7 days | |
Refrigerated | 7 days |
An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations
Identification of patients with melanoma who are most likely to benefit from targeted therapies
This test is not intended for serial monitoring of patients with malignant melanoma, evaluating patients with other malignancies, or as a screening test to identify cancer.
This test is not validated for serial monitoring of patients with malignant melanoma, nor should it be used for evaluating patients with other malignancies. This test is also not intended as a screening test to identify cancer.
This test uses DNA extracted from the peripheral blood to evaluate for the presence of BRAF V600E and V600K alterations. A positive result indicates the presence of an activating BRAF alteration and may be useful for guiding the treatment of individuals with melanoma.
Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumor growth and progression. Multiple targeted therapies have been approved by the FDA for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.
An interpretive report will be provided.
Patients with a negative test result may still harbor a V600E or V600K alteration. Variant testing of a tissue specimen for BRAF alterations should be considered for patients with a negative result with this test.
The limit of detection of this assay for the detection of BRAF V600E and V600K alterations is influenced by the amount of cell-free DNA (cfDNA) in the blood. This is a biological variable that cannot be controlled.
This assay was designed to detect V600E and V600K alterations. The sensitivity for rarer V600 alterations has not been established.
This test has not been clinically validated for use as a tool to monitor response to therapy or for early detection of tumors.
This test cannot differentiate between somatic and germline alterations.
This test has been evaluated by our laboratory as an alternative to assessing paraffin embedded tumor specimens for BRAF alterations in patients with advanced melanoma. Those studies revealed that this assay has a high positive predictive value (100% in our study) for the presence of a BRAF V600 alteration in a patient's tumor and high concordance between the specific alteration type observed in the patient's plasma and tumor.
While the positive predictive value of this assay was very high, the negative predictive value of the assay in this study (using BRAF tissue result as the gold standard) was only 71%.
1. Sanmamed MJ, Fernandez-Landazuri S, Rodriguez C, et al: Quantitative cell-free circulating BRAFV600E mutation analysis by use of droplet digital PCR in the follow-up of patients with melanoma being treated with BRAF inhibitors. Clin Chem 2015;61(1):297-304
2. Schwarzenbach H, Hoon DS, Pantel K: Cell-free nucleic acids as biomarkers in cancer patients. Nat Rev Cancer 2011;11(6):426-437
3. Johnson DB, Sosman JA: Update on the targeted therapy of melanoma. Curr Treat Options Oncol 2013;(2):280-292
4. McArthur GA, Chapman PB, Robert C, et al: Safety and efficacy of vemurafenib in BRAF (V600E) and BRAF (V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomized, open-label study. Lancet Oncol 2014 Mar;15(3):323-332
Blood samples are collected in Streck Cell-Free DNA blood collection tubes. Cell-free DNA (cfDNA) is isolated from double-centrifuged plasma and assessed for the presence of the BRAF V600E and BRAF V600K alterations using digital droplet polymerase chain reaction (ddPCR).(Unpublished Mayo method)
Monday through Friday
This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.
81210
Test Id | Test Order Name | Order LOINC Value |
---|---|---|
BRAFB | cfDNA BRAF V600 Test, Blood | 93690-6 |
Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
---|---|---|
48044 | Result Summary | 50397-9 |
48045 | Result | 93690-6 |
48046 | Interpretation | 69047-9 |
48047 | Additional Information | 48767-8 |
48048 | Specimen | 31208-2 |
48049 | Source | 31208-2 |
48050 | Released By | 18771-6 |
606201 | Method | 85069-3 |
606202 | Disclaimer | 62364-5 |